期刊
FRONTIERS IN MEDICINE
卷 8, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fmed.2021.760236
关键词
Krabbe disease (globoid cell leukodystrophy); leukodystrophies; adeno-associated virus; gene therapy; galactocerebrosidase; psychosine
Krabbe Disease is an autosomal metabolic disorder affecting the central and peripheral nervous systems, with no effective therapy currently available. However, recent advancements in gene therapy offer a promising outlook for clinical treatment.
Krabbe Disease (KD) is an autosomal metabolic disorder that affects both the central and peripheral nervous systems. It is caused by a functional deficiency of the lysosomal enzyme, galactocerebrosidase (GALC), resulting in an accumulation of the toxic metabolite, psychosine. Psychosine accumulation affects many different cellular pathways, leading to severe demyelination. Although there is currently no effective therapy for Krabbe disease, recent gene therapy-based approaches in animal models have indicated a promising outlook for clinical treatment. This review highlights recent findings in the pathogenesis of Krabbe disease, and evaluates AAV-based gene therapy as a promising strategy for treating this devastating pediatric disease.
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